Canonical Allele Identifier: CA935753240

Gene: SLC6A5

Linked Data

• dbSNP Id: rs1853028056
• gnomAD v3: 11-20627829-T-TA
• gnomAD v4: 11-20627829-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20627829_20627830insA , CM000673.2:g.20627829_20627830insA	GRCh38
NC_000011.9:g.20649375_20649376insA , CM000673.1:g.20649375_20649376insA	GRCh37
NC_000011.8:g.20605951_20605952insA	NCBI36
NG_013086.1:g.33430_33431insA
NG_013086.2:g.33430_33431insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1396-151_1396-150insA MANE Select	ENSP00000434364.2:n.1396-151_1396-150insA
ENST00000298923.11:c.*693-151_*693-150insA	ENSP00000298923.7:n.*693-151_*693-150insA
ENST00000525748.5:c.1396-151_1396-150insA	ENSP00000434364.1:n.1396-151_1396-150insA
NM_004211.3:c.1396-151_1396-150insA	NP_004202.2:n.1396-151_1396-150insA
XM_005253225.1:c.694-151_694-150insA	XP_005253282.1:n.694-151_694-150insA
XM_011520473.1:c.1396-151_1396-150insA	XP_011518775.1:n.1396-151_1396-150insA
NM_001318369.1:c.694-151_694-150insA	NP_001305298.1:n.694-151_694-150insA
NM_004211.4:c.1396-151_1396-150insA	NP_004202.3:n.1396-151_1396-150insA
XM_017018544.2:c.520-151_520-150insA	XP_016874033.1:n.520-151_520-150insA
XM_017018545.2:c.355-151_355-150insA	XP_016874034.1:n.355-151_355-150insA
NM_001318369.2:c.694-151_694-150insA	NP_001305298.1:n.694-151_694-150insA
NM_004211.5:c.1396-151_1396-150insA MANE Select	NP_004202.4:n.1396-151_1396-150insA